{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342817045",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.616T>C (p.Phe206Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156104296T>C?assembly=hg19",
        "id": "chr1:g.156104296T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156134505T>C?assembly=hg38",
        "id": "chr1:g.156134505T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156134505,
          "referenceAllele": "T",
          "start": 156134504
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156134505T>C",
        "CM000663.2:g.156134505T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156104296,
          "referenceAllele": "T",
          "start": 156104295
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156104296T>C",
        "CM000663.1:g.156104296T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154370920,
          "referenceAllele": "T",
          "start": 154370919
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154370920T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56933,
          "referenceAllele": "T",
          "start": 56932
        }
      ],
      "hgvs": [
        "NG_008692.2:g.56933T>C",
        "LRG_254:g.56933T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.58T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Phe20Leu",
        "hgvsWellDefined": "ENSP00000426535.3:p.Phe20Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "T",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000506904.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000506771.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000508220.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "T",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000355292.6:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000357283.4:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Phe206Leu"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Phe206Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-49T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-49T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000502261.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1014,
          "referenceAllele": "T",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*415T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*415T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000502798.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 309,
          "referenceAllele": "T",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.309T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*416T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*416T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000501803.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "referenceAllele": "T",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*87T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*87T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000501670.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000502256.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000502468.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.991T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "T",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000502091.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000501648.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000503633.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Phe206Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Phe206Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000292304.3:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000355292.5:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.373T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Phe125Leu",
        "hgvsWellDefined": "ENSP00000357280.1:p.Phe125Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000357282.3:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000357283.4:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Phe206Leu",
        "hgvsWellDefined": "ENSP00000357284.2:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "T",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.280T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Phe94Leu",
        "hgvsWellDefined": "ENSP00000395597.2:p.Phe94Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Phe107Leu",
        "hgvsWellDefined": "ENSP00000421821.1:p.Phe107Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "T",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502357.5:n.514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.367T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Phe123Leu",
        "hgvsWellDefined": "ENSP00000426535.1:p.Phe123Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "T",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*290T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*290T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982723",
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.280T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Phe94Leu",
        "hgvsWellDefined": "NP_001244303.1:p.Phe94Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657461",
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "T",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.373T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Phe125Leu",
        "hgvsWellDefined": "NP_001269553.1:p.Phe125Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658721",
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "T",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_001269554.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659982",
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_001269555.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA284714",
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.616T>C",
        "LRG_254t1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_005563.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104274",
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_733821.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA284715",
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_733822.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.280T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Phe94Leu",
        "hgvsWellDefined": "XP_011507835.1:p.Phe94Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "T",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-49T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-49T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "T",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.865T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-49T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-49T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.863T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104274",
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_733821.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Phe206Leu"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Phe206Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982723",
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "T",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.280T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Phe94Leu",
        "hgvsWellDefined": "NP_001244303.1:p.Phe94Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659982",
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_001269555.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657461",
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.373T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Phe125Leu",
        "hgvsWellDefined": "NP_001269553.1:p.Phe125Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658721",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "T",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_001269554.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA284714",
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_005563.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Phe206Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Phe206Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA284715",
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Phe206Leu",
        "hgvsWellDefined": "NP_733822.1:p.Phe206Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}